Variant (rsID / SNP)
rs139754493
rs139754493 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYSF. Location: chromosome 2, position 71,780,972. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
DYSFConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:71780972
- Cytoband
- 2p13.2
- HGVS
- NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu)
- Allele change
- Missense_K642E
Associated conditions / phenotypes
Miyoshi myopathy|Limb-Girdle Muscular Dystrophy, Recessive|Qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B|Miyoshi muscular dystrophy 1|Distal myopathy with anterior tibial onset
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.